Canonical Allele Identifier: CA497278627

Gene: INPP5K

Linked Data

• gnomAD v4: 17-1496081-C-A
• MyVariant Identifiers: chr17:g.1399375C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496081C>A , CM000679.2:g.1496081C>A	GRCh38
NC_000017.10:g.1399375C>A , CM000679.1:g.1399375C>A	GRCh37
NC_000017.9:g.1346125C>A	NCBI36
NG_029891.1:g.25808G>T
NG_047063.1:g.1627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1269G>T MANE Select	ENSP00000413937.2:p.Val423=
ENST00000320345.10:c.1041G>T	ENSP00000318476.6:p.Val347=
ENST00000350761.9:c.*860G>T	ENSP00000254712.5:n.*860G>T
ENST00000406424.8:c.1041G>T	ENSP00000385177.4:p.Val347=
ENST00000421807.6:c.1269G>T	ENSP00000413937.2:p.Val423=
ENST00000487039.1:n.381G>T
NM_001135642.1:c.1041G>T	NP_001129114.1:p.Val347=
NM_016532.3:c.1269G>T	NP_057616.2:p.Val423=
NM_130766.2:c.1041G>T	NP_570122.1:p.Val347=
XM_005256683.2:c.1041G>T	XP_005256740.1:p.Val347=
XM_005256685.1:c.993G>T	XP_005256742.1:p.Val331=
XM_005256686.1:c.993G>T	XP_005256743.1:p.Val331=
XM_011523934.1:c.1041G>T	XP_011522236.1:p.Val347=
XM_011523935.1:c.1041G>T	XP_011522237.1:p.Val347=
XM_011523936.1:c.864G>T	XP_011522238.1:p.Val288=
XM_005256686.2:c.993G>T	XP_005256743.1:p.Val331=
XM_011523936.2:c.864G>T	XP_011522238.1:p.Val288=
XM_017024756.1:c.1041G>T	XP_016880245.1:p.Val347=
XM_017024757.2:c.993G>T	XP_016880246.1:p.Val331=
XM_017024758.2:c.864G>T	XP_016880247.1:p.Val288=
XM_017024759.1:c.864G>T	XP_016880248.1:p.Val288=
XM_024450802.1:c.1041G>T	XP_024306570.1:p.Val347=
NM_016532.4:c.1269G>T MANE Select	NP_057616.2:p.Val423=
NM_001135642.2:c.1041G>T	NP_001129114.1:p.Val347=
NM_130766.3:c.1041G>T	NP_570122.1:p.Val347=